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伴有先天性心脏病和双胎妊娠的“小胃-肢体短小”综合征

'Microgastria--limb reduction' complex with congenital heart disease and twinning.

作者信息

Lurie I W, Magee C A, Sun C C, Ferencz C

机构信息

Division of Human Genetics, University of Baltimore, Maryland School of Medicine, MD 21201-1703, USA.

出版信息

Clin Dysmorphol. 1995 Apr;4(2):150-5.

PMID:7606322
Abstract

We report a newborn, the second of male twins, with multiple abnormalities, including microphthalmia, a complex cardiovascular malformation, asplenia, anomalous lobation of the lungs, oesophageal atresia, microgastria, intestinal malrotation, anal atresia, multicystic dysplastic kidneys, and reduction defects of the upper extremities. These defects fit into the so-called 'microgastria-limb reduction' complex. Two of twelve previously reported patients with this complex were from discordant twin pairs. The occurrence of twinning in three out of 13 cases suggests that the origin of the 'microgastria-limb reduction' complex may be related to the process of twinning itself.

摘要

我们报告了一名男双胞胎中的第二个新生儿,患有多种异常,包括小眼畸形、复杂的心血管畸形、无脾、肺叶异常、食管闭锁、小胃、肠旋转不良、肛门闭锁、多囊性发育不良肾以及上肢发育不全。这些缺陷符合所谓的“小胃-肢体发育不全”综合征。先前报道的12例患有该综合征的患者中有2例来自异卵双胞胎。13例中有3例出现双胞胎情况,这表明“小胃-肢体发育不全”综合征的起源可能与双胞胎形成过程本身有关。

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'Microgastria--limb reduction' complex with congenital heart disease and twinning.伴有先天性心脏病和双胎妊娠的“小胃-肢体短小”综合征
Clin Dysmorphol. 1995 Apr;4(2):150-5.
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Microgastria-hypoplastic upper limb association: a severe expression including microphthalmia, single nostril and arhinencephaly.小胃-上肢发育不全综合征:一种严重表现,包括小眼畸形、单鼻孔和无脑回畸形。
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